Part 1: Rare Disease Clinical Research – Spotlight on the Patient and...
In this webinar, Medpace partners with the Batten Disease Support and Research Association (BDSRA) to discuss the need to educate patients and their caregivers on the importance and increase of...(PRWeb February 13, 2020)Read the full story at https://www.prweb.com/releases/part_1_rare_disease_clinical_research_spotlight_on_the_patient_and_caregiver_upcoming_webinar_hosted_by_xtalks/prweb16908279.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - February 13, 2020 Category: Pharmaceuticals Source Type: news

FDA will join the global observance of Rare Disease Day 2020 raising awareness about the 7,000 known rare diseases, many of which have no treatment. #FDARare2020 #rarediseaseday Join us at our public meeting on February 24, 2020 https://go.usa.gov/xdTqf   pic.twitter.com/nDS7LA0MrO
FDA will join the global observance of Rare Disease Day 2020 raising awareness about the 7,000 known rare diseases, many of which have no treatment. #FDARare2020 #rarediseaseday Join us at our public meeting on February 24, 2020 https://go.usa.gov/xdTqf  pic.twitter.com/nDS7LA0MrO (Source: Food and Drug Adminstration (FDA): CDRHNew)
Source: Food and Drug Adminstration (FDA): CDRHNew - February 10, 2020 Category: Medical Devices Authors: ( at FDAPatientinfo) Source Type: news

How many rare diseases are there?
(University of New Mexico Health Sciences Center) Dr. Tudor Oprea says a better method for classifying rare diseases will lead to improved patient care. (Source: EurekAlert! - Infectious and Emerging Diseases)
Source: EurekAlert! - Infectious and Emerging Diseases - February 4, 2020 Category: Infectious Diseases Source Type: news

Chan Zuckerberg Initiative awards $13.5 million to drive progress against rare diseases
(Chan Zuckerberg Initiative) Today, the Chan Zuckerberg Initiative (CZI) announced $13.5 million in funding to 30 patient-led organizations that are working to find treatments and cures for rare diseases. These grants are part of CZI's Rare As One Project, aimed at supporting and lifting up the work that patient communities are doing to accelerate research and drive progress in the fight against rare diseases. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - February 3, 2020 Category: International Medicine & Public Health Source Type: news

Families of rare-disease patients take on drug development, but face uphill battle
Frustrated with the slow pace of drug discovery and desperate to help their loved ones, untrained family members take the work into their own hands by starting biopharma companies. But few such companies have been successful. (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - January 31, 2020 Category: Biotechnology Authors: Allison DeAngelis Source Type: news

Pinpointing rare disease mutations
(European Molecular Biology Laboratory - European Bioinformatics Institute) Scientists have compiled mouse and human cell knockout data to categorise genes based on how essential they are for survival and organism development. The research creates a resource that can be used by other scientists to further investigate candidate genes potentially involved in developmental disorders. The work could help identify new mutations causing rare genetic diseases. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 31, 2020 Category: International Medicine & Public Health Source Type: news

Insmed Appoints Sara Bonstein as Chief Financial Officer
BRIDGEWATER, N.J., Jan. 30, 2020 -- (Healthcare Sales & Marketing Network) -- Insmed Incorporated (Nasdaq:INSM), a global biopharmaceutical company on a mission to transform the lives of patients with serious and rare diseases, today announced the appoint... Biopharmaceuticals, Personnel Insmed (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - January 30, 2020 Category: Pharmaceuticals Source Type: news

Novartis/Big Pharma: dosing up
Drugs that treat rare diseases can be good for wealth as well as health (Source: FT.com - Drugs and Healthcare)
Source: FT.com - Drugs and Healthcare - January 29, 2020 Category: Pharmaceuticals Source Type: news

Acceleron stock soars on lung drug trial data
Mere months after its first product was approved by the FDA, Cambridge ’s Acceleron Pharma is closer to executing a one-two punch after announcing new clinical trial data this week.  Acceleron (Nasdaq: XLRN) reported Monday that its high blood pressure disorder drug sotatercept succeeded in a midstage trial. The rare-disease drug is designed to treat pulmonary arterial hypertension, a condition that causes the small arteries in the lungs to narrow, blocking blood flow and causing pressure… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - January 28, 2020 Category: Biotechnology Authors: Allison DeAngelis Source Type: news

Rare Disease Put This Young Mom in a Coma for 7 Months
This is a rare disease in which the immune system attacks the brain and disrupts normal brain signaling. It first affected her ability to think clearly, but soon she was suffering from relentless seizures. (Source: WebMD Health)
Source: WebMD Health - January 23, 2020 Category: Consumer Health News Source Type: news

Rare Disease Put This Young Mom in a Coma for 7 Months
THURSDAY, Jan. 23, 2020 -- Kertisha Brabson's mom rushed to the hospital after being told her adult daughter was acting out of her mind. " She was talking out of her head, dancing like she was at a concert, " recalls Kertease Williams. " She was... (Source: Drugs.com - Daily MedNews)
Source: Drugs.com - Daily MedNews - January 23, 2020 Category: General Medicine Source Type: news

Roche ’s Risdiplam meets primary endpoint in pivotal FIREFISH trial in infants with type 1 spinal muscular atrophy
             Basel, 23 January 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced positive topline results from the pivotal Part 2 of the FIREFISH study, evaluating risdiplam in infants aged 1-7 months with Type 1 spinal muscular atrophy (SMA). The primary outcome measure of the study was the proportion of infants sitting without support for at least five seconds at 12-months of treatment, assessed by the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development Third Edition (BSID-III). Safety for risdiplam in the FIREFISH study was con...
Source: Roche Investor Update - January 23, 2020 Category: Pharmaceuticals Source Type: news

Roche ’s Risdiplam meets primary endpoint in pivotal FIREFISH trial in infants with type 1 spinal muscular atrophy
             Basel, 23 January 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced positive topline results from the pivotal Part 2 of the FIREFISH study, evaluating risdiplam in infants aged 1-7 months with Type 1 spinal muscular atrophy (SMA). The primary outcome measure of the study was the proportion of infants sitting without support for at least five seconds at 12-months of treatment, assessed by the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development Third Edition (BSID-III). Safety for risdiplam in the FIREFISH study was con...
Source: Roche Media News - January 23, 2020 Category: Pharmaceuticals Source Type: news

Quest Discovers Genetic Blueprint with Latest Deal
Quest Diagnostics said it has acquired Blueprint Genetics in an all-cash equity transaction. Helsinki, Finland-based Blueprint Genetics has deep expertise in gene variant interpretation based on next-generation sequencing (NGS) and proprietary bioinformatics.  Additional financial terms were not disclosed.  Quest said the addition of Blueprint Genetics will help broaden access to actionable insights in genetic and rare diseases, improving patient care and pharmaceutical drug research and development. "The great challenge with genetic testing is generating quality, actionable and broadly accessi...
Source: MDDI - January 22, 2020 Category: Medical Devices Authors: MDDI Staff Tags: IVD Source Type: news

Designating an Orphan Product: Drugs and Biological Products
The Orphan Drug Act (ODA) provides for granting special status to a drug or biological product to treat a rare disease or condition upon request of a sponsor. (Source: FDA Center for Drug Evaluation and Research - What's New)
Source: FDA Center for Drug Evaluation and Research - What's New - January 22, 2020 Category: Drugs & Pharmacology Authors: FDA Source Type: news

FDA Harnesses Technology and Collaboration to Support Rare Disease Product Development
Announcing an Orphan Drug Technology Modernization effort and the 2020 FDA Rare Disease Day meeting, this article discusses upcoming FDA activities to support medical product development for rare diseases. (Source: FDA Center for Drug Evaluation and Research - What's New)
Source: FDA Center for Drug Evaluation and Research - What's New - January 17, 2020 Category: Drugs & Pharmacology Authors: FDA Source Type: news

Open Call SC1-HCO-20-2020: Coordination of Clinical Research Activities of the European Reference Networks
European Reference Networks (ERNs) have been established under the Directive on Patients' rights in cross-border health care in view of tackling complex or rare diseases and conditions that require highly specialised diagnostic tools and treatments. ERNs in collaboration with other European initiatives will gain major research potential due to their network structure bringing together highly specialised multidisciplinary expertise (Source: eHealth News EU)
Source: eHealth News EU - January 15, 2020 Category: Information Technology Tags: Featured Open Calls Source Type: news

Into pharma's roaring twenties
“I drained the last of my cocktail, gazing up at the ceiling. It was one of those moments that curls the hairs on your neck. At once, the grand scale of this labyrinth of cathedrals became clear, the desert wind blowing through the clever hieroglyphics carved into every available surface. I turned my head back down to ground level just in time to see the man draw back his fist in anger, and then.And then.With a piercing shriek, he lunged straight at my jaw –”Do you ever wake from a dream, marvelling at the inventiveness and detail of your subconscious mind? That disorienting moment where you lie blinking ...
Source: EyeForPharma - January 14, 2020 Category: Pharmaceuticals Authors: Paul Simms Source Type: news

Govt to come up with financial assistance for fighting rare diseases
The decision comes as the government comes up with a new draft policy for the treatment of rare diseases, more than a year after it withdrew the earlier policy that promised an initial corpus fund of Rs 100 crore for the treatment of patients with rare genetic diseases. (Source: The Economic Times)
Source: The Economic Times - January 14, 2020 Category: Consumer Health News Source Type: news

B.C. funding decision on pricey drug leaves teen with rare disease facing 'scary' future
B.C. has expanded its coverage of an exorbitantly expensive drug that could make a huge difference for Miles Ambridge’s future, but at 14 years old, he’s just a bit too old to qualify. (Source: CBC | Health)
Source: CBC | Health - January 13, 2020 Category: Consumer Health News Tags: News/Canada/British Columbia Source Type: news

The Conundrum Of Investing In Cardiovascular Versus Rare Diseases R & D
It ’s important to recognize that an R&D organization must use its resources to maximize the return on a company ’s investment. To do that, investments must be made in therapeutic areas where the odds of technical, regulatory and commercial success are high. Unfortunately, CVD is not such an area. (Source: Forbes.com Healthcare News)
Source: Forbes.com Healthcare News - January 9, 2020 Category: Pharmaceuticals Authors: John LaMattina, Contributor Source Type: news

Analysis of Commercial DNA Tests Finds Inconsistent Coverage Analysis of Commercial DNA Tests Finds Inconsistent Coverage
Once strictly the domain of research labs, tests that sequence large swaths of the human genome called the exome have become increasingly popular among medical specialists as a way to understand the genetic causes of rare disease.Reuters Health Information (Source: Medscape Pathology Headlines)
Source: Medscape Pathology Headlines - January 9, 2020 Category: Pathology Tags: Pathology & Lab Medicine News Source Type: news

FDA Approves Ayvakit (avapritinib) for the Treatment of Adults with Unresectable or Metastatic PDGFRA Exon 18 Mutant Gastrointestinal Stromal Tumor
CAMBRIDGE, Mass., Jan. 9, 2020 /PRNewswire/ -- Blueprint Medicines Corporation (NASDAQ: BPMC), a precision therapy company focused on genomically defined cancers, rare diseases and cancer immunotherapy, today announced that the U.S. Food and Drug... (Source: Drugs.com - New Drug Approvals)
Source: Drugs.com - New Drug Approvals - January 9, 2020 Category: Drugs & Pharmacology Source Type: news

Analysis of commercial DNA tests finds inconsistent coverage
(Reuters Health) - Once strictly the domain of research labs, tests that sequence large swaths of the human genome called the exome have become increasingly popular among medical specialists as a way to understand the genetic causes of rare disease. (Source: Reuters: Health)
Source: Reuters: Health - January 7, 2020 Category: Consumer Health News Tags: healthNews Source Type: news

NCI-MATCH: T-DM1 shows promising activity in salivary gland cancer
(ECOG-ACRIN Cancer Research Group) A discovery from NCI-MATCH, the largest precision medicine cancer trial, relates to patients with salivary gland cancer treated with ado-trastuzumab emtansine (T-DM1), a drug already FDA-approved for certain types of breast cancer. Two of the three NCI-MATCH patients with this rare disease saw their tumors shrink by at least 30% with T-DM1 treatment and the benefit lasted two years for one patient and nine months for the other. Another recent trial reported similar benefits. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 7, 2020 Category: International Medicine & Public Health Source Type: news

DNA testing on NHS will speed up diagnosis for ill babies
Critically ill babies and children are set to receive DNA testing on the NHS to speed up their diagnosis after genetic sequencing became routinely available for children with suspected rare diseases. (Source: the Mail online | Health)
Source: the Mail online | Health - January 3, 2020 Category: Consumer Health News Source Type: news

DNA testing on the NHS to fast-track diagnosis for critically ill babies and children
The NHS in England is providing a new form of DNA test capable of rapidly diagnosing rare diseases for critically ill babies and children. (Source: NHS Networks)
Source: NHS Networks - January 3, 2020 Category: UK Health Source Type: news

Florida boy, 4, is one of just 60 people with mysterious organ failing disease
Grayson Heintrich, four, from Jensen Beach, Florida, was diagnosed with a very rare disease called hypereosinophilic syndrome, which can cause severe organ damage over time. (Source: the Mail online | Health)
Source: the Mail online | Health - December 31, 2019 Category: Consumer Health News Source Type: news

Girl, 12, saved by miracle heart transplant after nearly dying from a rare disease
Kayleigh Llewellyn, of County Durham, was diagnosed with cardiomyopathy three months ago. She was put on the urgent transplant list and a donor organ was found before Christmas. (Source: the Mail online | Health)
Source: the Mail online | Health - December 31, 2019 Category: Consumer Health News Source Type: news

ESPN reporter Edward Aschoff was diagnosed with pneumonia and HLH before he died. What is HLH?
When ESPN reporter Edward Aschoff died, he had been diagnosed with multifocal pneumonia and a rare disease known as HLH, his fianc ée tweeted. (Source: CNN.com - Health)
Source: CNN.com - Health - December 27, 2019 Category: Consumer Health News Source Type: news

'Itch like crazy:' Edmonton boy battles ultra-rare disease
Armando Perez was only three months old when he got itchy. (Source: CBC | Health)
Source: CBC | Health - December 27, 2019 Category: Consumer Health News Tags: News/Canada/Edmonton Source Type: news

Edmonton boy battles ultra-rare disease that makes him 'itch like crazy'
Armando Perez was only three months old when he got itchy. (Source: CBC | Health)
Source: CBC | Health - December 27, 2019 Category: Consumer Health News Tags: News/Canada/Edmonton Source Type: news

'We can't wait': Life-saving cystic fibrosis drugs hard to access, advocates say
Hundreds of Albertans sent letters to Health Minister Tyler Shandro earlier this month, calling on the province to make cystic fibrosis drugs more accessible, and to support the development of a federal strategy on rare diseases. (Source: CBC | Health)
Source: CBC | Health - December 22, 2019 Category: Consumer Health News Tags: News/Canada/Edmonton Source Type: news

Rare diseases: customizing cures, patient by patient
Yale geneticist Monkol Lek, Ph.D., who has muscular dystrophy, wants to cure a rare form of the disease. (Source: Yale Science and Health News)
Source: Yale Science and Health News - December 20, 2019 Category: Universities & Medical Training Source Type: news

eyeforpharma Awards: Recognizing and celebrating innovation
At the eyeforpharma Awards we strive to reward, support and incentivise innovation, especially when it comes to the value pharma offers patients and customers. We only recognize meaningful innovation which takes our industry, our reputation and our impact forward and the entries are measured objectively by external judges.  I was amazed by the quality of entries this year. With 500 nominations, our judges – a mixture of patients and health professionals – deliberated hard for many hours, finally settling on just 16 winners, each exemplifying the very best work in pharma.   By ‘best’...
Source: EyeForPharma - December 19, 2019 Category: Pharmaceuticals Authors: Paul Simms Source Type: news

Natpar(a): A Case in Point for Rare Disease Drugs? Natpar(a): A Case in Point for Rare Disease Drugs?
The US recall of recombinant parathyroid hormone Natpara has shone a light on reimbursement issues in the UK and other EU countries, where it's known as Natpar; patients are frustrated.Medscape Medical News (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - December 18, 2019 Category: Consumer Health News Tags: Diabetes & Endocrinology News Source Type: news

Rare Diseases | Medscape Rare Diseases | Medscape
NULL IN SCS TARGET (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - December 18, 2019 Category: Consumer Health News Tags: Resource Center Source Type: news

Paul Hudson seeks to write new prescription for Sanofi
French drugmaker has diagnosed oncology and rare diseases as potential areas of growth (Source: FT.com - Drugs and Healthcare)
Source: FT.com - Drugs and Healthcare - December 13, 2019 Category: Pharmaceuticals Source Type: news

Pfizer's rare disease drug gets EMA's positive recommendation
Pfizer Inc said on Friday the European Medicines Agency granted the company a positive recommendation for approval of its treatment for a rare disorder that occurs in patients with cardiomyopathy. (Source: Reuters: Health)
Source: Reuters: Health - December 13, 2019 Category: Consumer Health News Tags: healthNews Source Type: news

In an about face, FDA approves Sarepta's 2nd Duchenne drug
The FDA unexpectedly reversed course Thursday, approving the second treatment developed by Sarepta Therapeutics for the rare disease Duchenne muscular dystrophy just a few months after rejecting the drug.   Sarepta (Nasdaq: SRPT) announced Thursday evening that the agency had approved its second drug, called Vyondys 53. After the drug was originally rejected by the FDA in August due to concerns over the risk of infection at the infusion site and renal toxicity, the company filed an appeal. The comp any… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - December 13, 2019 Category: Pharmaceuticals Authors: Allison DeAngelis Source Type: news

FDA Approves Vyondys 53 (golodirsen) Injection for the Treatment of Duchenne Muscular Dystrophy (DMD) in Patients Amenable to Skipping Exon 53
CAMBRIDGE, Mass., Dec. 12, 2019 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that the U.S. Food and Drug Administration (FDA) has approved Vyondys 53™... (Source: Drugs.com - New Drug Approvals)
Source: Drugs.com - New Drug Approvals - December 12, 2019 Category: Drugs & Pharmacology Source Type: news

Biotech accelerator teams with investment firm for $210M fund raise
A New York investment firm has raised $210 million for startups coming out of Boston-based biotech accelerator Xontogeny. It announced its first investment Tuesday: a $17 million early-stage funding of a local rare-disease startup. (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - December 10, 2019 Category: Biotechnology Authors: Allison DeAngelis Source Type: news

Merck to buy Massachusetts cancer drug developer for $2.7 billion
Merck entered into a $2.7 billion deal Monday to buy ArQule Inc., a Massachusetts-based biopharmaceutical company developing targeted therapies for cancer and rare diseases. Under the terms of the cash deal, which still requires regulatory and shareholder approval, Merck (NYSE: MRK) will pay $20 per share to ArQule (NASDAQ: ARQL) stockholders. The offer is more than a 100% premium over the $9.66 share price ArQule closed at on Friday. Based in Kenilworth, New Jersey , Merck has a large presence… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - December 9, 2019 Category: Pharmaceuticals Authors: John George Source Type: news

How Does Gaucher Disease Present?
Discussion Gaucher disease (GD) was first described by Philippe Gaucher in 1882. It was the first lysosomal storage disease (LSD) described and is the comparison prototype for many variations and their treatment. There are about 50 LSD and more well-known ones include Fabry, Niemann-Pick and Pompe diseases. LSDs currently have more than 300 different enzymes or membrane proteins affected which cause central nervous system and visceral disease. Overall the frequency of LSDs in aggregate is 1:3000 – 7000 live births. GD has an estimated prevalence of 1:57,000 – 111,000. It is higher within the Ashkenazi Jewish po...
Source: PediatricEducation.org - December 9, 2019 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Website tackles an all-too-common problem with rare diseases: A shortage of information
NORD’s database offers a great deal of material on symptoms, research, known therapies, clinical trials and support groups. (Source: Washington Post: To Your Health)
Source: Washington Post: To Your Health - December 7, 2019 Category: Consumer Health News Authors: Erin Blakemore Source Type: news

3DBio Therapeutics Wins Rare Pediatric Disease Designation
3DBio Therapeutics has won a unique designation from FDA. The New York-based company was granted a Rare Pediatric Disease designation for AuriNovo, an investigational combination product for reconstruction of the outer ear in patients with microtia. Microtia is a rare congenital disorder causing the outer ear (auricle) to be smaller than typical, misshapen, and sometimes missing at birth; most cases only affect one ear. The firm’s AuriNovo combination product incorporates the patient's own auricular cartilage cells into a 3D-bioprinted, living, full-sized ear construct designed to replace the patient's mi...
Source: MDDI - December 6, 2019 Category: Medical Devices Authors: Omar Ford Tags: Regulatory and Compliance Source Type: news

Man, 43, is left with a 'penile stump' after having an amputation because of a rare disease
The patient visited Flinders Medical Centre, near Adelaide in Australia, for a routine appointment and doctors realised he had gangrene because of a condition which kills six out of 10 people who get it. (Source: the Mail online | Health)
Source: the Mail online | Health - December 6, 2019 Category: Consumer Health News Source Type: news

Ontario Focused on Rare Disease Drugs Ahead of National Drug Plan Talks Ontario Focused on Rare Disease Drugs Ahead of National Drug Plan Talks
The Canadian province of Ontario will push for the federal government to tackle the high cost of treatments for rare diseases as negotiations over a new national prescription drug program are set to kick off, the province's health minister told Reuters on Monday.Reuters Health Information (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - December 4, 2019 Category: Consumer Health News Tags: Family Medicine/Primary Care News Source Type: news

Ontario focused on rare disease drugs ahead of national drug plan talks
The Canadian province of Ontario will push for the federal government to tackle the high cost of treatments for rare diseases as negotiations over a new national prescription drug program are set to kick off, the province's health minister told Reuters on Monday. (Source: Reuters: Health)
Source: Reuters: Health - December 2, 2019 Category: Consumer Health News Tags: healthNews Source Type: news

UNC researchers uncover clues to rare, fatal disease
UNC Health researchers may have made a breakthrough in the mystery around a rare disease that proves fatal for some patients. (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - December 2, 2019 Category: Pharmaceuticals Authors: Seth Thomas Gulledge Source Type: news