Other Congenital Malformation Syndromes

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6Specialists8Treatment centers

Where are you in your journey?

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

Other Congenital Malformation Syndromes is treated with 1 medication in our database, including VIJOICE. 1 of these has manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Novartis. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Other Congenital Malformation Syndromes treatment below.

NORD ↗

FDA & Trial Timeline

5 events
May 2023Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders

National Institute of Allergy and Infectious Diseases (NIAID)

TrialRECRUITING
Nov 2021A Study of the Safety and Tolerability in Participants With PIK3CA-related Overgrowth Spectrum or Proteus Syndrome Who Are Being Treated With Miransertib (MK-7075) in Other Studies (MK-7075-006)

Merck Sharp & Dohme LLC — PHASE2

TrialACTIVE NOT RECRUITING
Dec 2020A Dose Escalation/Expansion Study of ERAS-601 in Patients With Advanced or Metastatic Solid Tumors

Erasca, Inc. — PHASE1

TrialACTIVE NOT RECRUITING
Aug 2019A Study to Evaluate Long-term Safety in Participants Who Have Participated in Other Luspatercept (ACE-536) Clinical Trials

Celgene — PHASE3

TrialRECRUITING
Dec 2016Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)

National Institute of Allergy and Infectious Diseases (NIAID)

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Other Congenital Malformation Syndromes.

View clinical trials →

No actively recruiting trials found for Other Congenital Malformation Syndromes at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Other Congenital Malformation Syndromes community →

Specialists

6 foundView all specialists →
AS
Ann (Annie) W Silk
Los Angeles, California
Specialist

Rare Disease Specialist

PI on 1 active trial
CM
Cheryl L. Willman, MD
ALBUQUERQUE, TX
Specialist
PI on 2 active trials
JP
John Matthews, MBBS, MCRP, PhD
Birmingham, Alabama
Specialist

Rare Disease Specialist

PI on 4 active trials
MM
Michael Ortiz, MD
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 Other Congenital Malformation Syndromes.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Other Congenital Malformation Syndromes

1 articles
ResearchCLINICALTRIALSMar 27, 2026
Trial Now Recruiting: Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset (NCT06475651)
Researchers are looking for 63 participants to help them understand how DNA changes in babies before birth compare to DNA changes after birth. They want to coll
See all news about Other Congenital Malformation Syndromes

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 Other Congenital Malformation Syndromes

What is Other Congenital Malformation Syndromes?

Other Congenital Malformation Syndromes is treated with 1 medication in our database, including VIJOICE. 1 of these has manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Novartis. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Other Congenital Malformation Syndromes treatment below.

Which specialists treat Other Congenital Malformation Syndromes?

6 specialists and care centers treating Other Congenital Malformation Syndromes are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.