# Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases

> **NCT05996731** · NA · RECRUITING · sponsor: **Mario Negri Institute for Pharmacological Research** · enrollment: 105 (estimated)

## Conditions studied

- Atypical Hemolytic Uremic Syndrome
- Membranoproliferative Glomerulonephritis
- Autosomal Dominant Polycystic Kidney
- Healthy

## Interventions

- **PROCEDURE:** Skin biopsy

## Key facts

- **NCT ID:** NCT05996731
- **Lead sponsor:** Mario Negri Institute for Pharmacological Research
- **Sponsor class:** OTHER
- **Phase:** NA
- **Study type:** INTERVENTIONAL
- **Status:** RECRUITING
- **Start date:** 2024-02-21
- **Primary completion:** 2026-06
- **Final completion:** 2026-06
- **Target enrollment:** 105 (ESTIMATED)
- **Last updated:** 2026-03-23


## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT05996731

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT05996731, "Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases". Retrieved via AI Analytics 2026-06-25 from https://api.ai-analytics.org/clinical/NCT05996731. Licensed CC0.

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*[Clinical trials dataset](/datasets/clinical-trials) · CC0 1.0*