Congenital tufting enteropathy

Last reviewed

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ORPHA:92050OMIM:613217P78.3
Who is this for?
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3Specialists8Treatment 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

Also known as:

Clinical phenotype terms— hover any for plain English:

Villous atrophyHP:0011473SteatorrheaHP:0002570Secretory diarrheaHP:0005208Abnormal small intestinal mucosa morphologyHP:0025129Elevated fecal osmolalityHP:0032486Abnormal large intestinal mucosa morphologyHP:0025090Corneal erosionHP:0200020
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

9 events
Feb 2026Inflammatory Challenge in Human Aggression.

Ohio State University — PHASE2

TrialRECRUITING
Feb 2026Six Versus Twelve Month Index Follow-up After Large Colon Polyp Resection

Indiana University — NA

TrialNOT YET RECRUITING
Nov 2025Observing 3-5 Year Old Children's Use of Interactive Electronic Devices (IED) in the Family Home to Understand the Context These Devices Are Being Used in, Exploring Whether Socioeconomic Factors or Parent's Own Use of Such Devices Influence the Child's IED Usage.

Sheffield Hallam University

TrialRECRUITING
Jan 2025LHC-CIDI-5 in Hong Kong

The University of Hong Kong

TrialRECRUITING
Apr 2024Assessing the Utility of Plasma ctHPVDNA for Anal Cancer Screening

Massachusetts Eye and Ear Infirmary

TrialACTIVE NOT RECRUITING
Jun 2023Neural Correlates During Alcohol Intoxication

Ohio State University — PHASE2

TrialRECRUITING
Jun 2023Kaneka iED Coil System for the Treatment of Wide Necked Ruptured and Unruptured Intracranial Aneurysms

Icahn School of Medicine at Mount Sinai — NA

TrialACTIVE NOT RECRUITING
Jan 2023Determining the Frequency of Occurrence and Defining the Most Appropriate Screening Test for Anal Intraepithelial Neoplasia (AIN) in Patients With Human Papillomavirus (HPV) Related Gynecological Diseases.

PCK Marine Hospital in Gdynia — NA

TrialRECRUITING
Sep 2022Effect of Nitrous Oxide on Aggression.

Ohio State University — PHASE2

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Congenital tufting enteropathy.

View clinical trials →

No actively recruiting trials found for Congenital tufting enteropathy at this time.

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

Search ClinicalTrials.gov ↗Join the Congenital tufting enteropathy community →

Specialists

3 foundView all specialists →
JM
Joel Palefsky, MD
SAN FRANCISCO, CA
Specialist
PI on 6 active trials
OP
Olivier Goulet, MD, PhD
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 Congenital tufting enteropathy.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Congenital tufting enteropathyForum →

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Latest news about Congenital tufting enteropathy

Disease timeline:

New recruiting trial: Neural Correlates During Alcohol Intoxication

A new clinical trial is recruiting patients for Congenital tufting enteropathy

New recruiting trial: LHC-CIDI-5 in Hong Kong

A new clinical trial is recruiting patients for Congenital tufting enteropathy

New recruiting trial: Inflammatory Challenge in Human Aggression.

A new clinical trial is recruiting patients for Congenital tufting enteropathy

New recruiting trial: Effect of Nitrous Oxide on Aggression.

A new clinical trial is recruiting patients for Congenital tufting enteropathy

New recruiting trial: Observing 3-5 Year Old Children's Use of Interactive Electronic Devices (IED) in the Family Home to Understand the Context These Devices Are Being Used in, Exploring Whether Socioeconomic Factors or Parent's Own Use of Such Devices Influence the Child's IED Usage.

A new clinical trial is recruiting patients for Congenital tufting enteropathy

New recruiting trial: Anal Cancer and/or Precancer Screening: Performance Analysis of the BD Onclarity™ HPV Assay on Anal Specimens

A new clinical trial is recruiting patients for Congenital tufting enteropathy

New recruiting trial: Determining the Frequency of Occurrence and Defining the Most Appropriate Screening Test for Anal Intraepithelial Neoplasia (AIN) in Patients With Human Papillomavirus (HPV) Related Gynecological Diseases.

A new clinical trial is recruiting patients for Congenital tufting enteropathy

New recruiting trial: Deciphering Mechanisms Underlying Cancer Immunogenicity

A new clinical trial is recruiting patients for Congenital tufting enteropathy

Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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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 Congenital tufting enteropathy

Which specialists treat Congenital tufting enteropathy?

3 specialists and care centers treating Congenital tufting enteropathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.