Spinal muscular atrophy with respiratory distress type 1

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ORPHA:98920OMIM:604320G12.2
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1Active trials2Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

Autosomal recessive distal spinal muscular atrophy type 1Autosomal recessive spinal muscular atrophy with respiratory distressdHMN6Diaphragmatic spinal muscular atrophyDistal hereditary motor neuropathy type 6Distal-HMN type 6dSMA1Kugelberg-Welander diseaseSevere infantile axonal neuropathy with respiratory failure type 1SIANRFSMASMARD1Werdnig-Hoffmann disease
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Nov 2021Gene Therapy for IGHMBP2-Related Diseases

Megan Waldrop — PHASE1, PHASE2

TrialENROLLING BY INVITATION

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Spinal muscular atrophy with respiratory distress type 1.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →

Specialists

2 foundView all specialists →
CP
Chiara Marini-Bettolo, MD, PhD
Newcastle upon Tyne
Specialist

Rare Disease Specialist

PI on 3 active trials
MP
Matthew ER Butchbach, Ph.D.
Specialist
PI on 2 active trials

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Spinal muscular atrophy with respiratory distress type 1.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Spinal muscular atrophy with respiratory distress type 1

5 articles
PolicyRSSApr 24, 2026
Newborn SMA screening widely supported in U.K. survey
A large survey in the U.K. found that most people—including families of babies screened for SMA, people living with SMA, doctors, and the general public—strongl…
NewsRSSApr 23, 2026
Managing intense knee pain after a fall onto a concrete floor
A person with SMA (spinal muscular atrophy) experienced a serious fall onto concrete while their nurse was helping them get dressed, resulting in intense knee p…
ResearchRSSApr 22, 2026
Targeting JNK pathway may offer new treatment approach for SMA
Scientists discovered that blocking a protein pathway called JNK in the body may help treat spinal muscular atrophy (SMA), a disease that weakens muscles. In mi…
NewsRSSApr 22, 2026
Having the newest generation of technology isn’t just a luxury with SMA
A person living with SMA (spinal muscular atrophy) discusses how having up-to-date technology is important for their daily life and work, not just a luxury. The…
NewsRSSApr 22, 2026
My recent overnight sleep study was uncomfortable, but necessary
The author shares their personal experience undergoing an overnight sleep study, comparing it to a previous study from 2002. They describe feeling nervous about…
See all news about Spinal muscular atrophy with respiratory distress type 1 →

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Spinal muscular atrophy with respiratory distress type 1

Are there clinical trials for Spinal muscular atrophy with respiratory distress type 1?

Yes — 1 recruiting clinical trial is currently listed for Spinal muscular atrophy with respiratory distress type 1 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Spinal muscular atrophy with respiratory distress type 1?

2 specialists and care centers treating Spinal muscular atrophy with respiratory distress type 1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.